E71: Disorders of branched-chain amino-acid metabolism and fatty-acid metabolism
Disorders of branched-chain amino acid metabolism and fatty acid metabolism (E71 group) are a collection of inherited disorders that interfere with the body's ability to properly break down certain types of proteins and fats. These disorders are caused by mutations in various genes that result in the disruption or absence of certain enzymes responsible for metabolizing these substances. As the body is unable to process them correctly, harmful amounts of substances can build up in the blood, urine, and tissues, leading to various health problems. These conditions often cause symptoms that affect multiple systems in the body. Symptoms may include poor appetite, vomiting, and neurologic problems like seizures, lethargy, and developmental delay. Most of these disorders begin in infancy or childhood, though some may not be evident until later in life. Since these conditions are inherited, they are not contagious and cannot be passed on through contact with an affected individual. The progression of these metabolic disorders varies widely, depending largely on the specific condition and its severity.
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